Artículo Destacado en trastornos del movimiento

Targeted Next-Generation Sequencing Revealed Novel Mutations in Chinese Ataxia Telangiectasia Patients: A Precision Medicine Perspective.

Chen Z, Ye W, Long Z, Ding D, Peng H, Hou X, Qiu R, Xia K, Tang B, Jiang H.

PLoS One. 2015 Oct 6;10(10):e0139738. doi: 10.1371/journal.pone.0139738.

A Gain-of-Function Mutation in NALCN in a Child with Intellectual Disability, Ataxia, and Arthrogryposis.

Aoyagi K, Rossignol E, Hamdan FF, Mulcahy B, Xie L, Nagamatsu S, Rouleau GA, Zhen M, Michaud JL.

Hum Mutat. 2015 Aug;36(8):753-7. doi: 10.1002/humu.22797.

Ataxia and myoclonic epilepsy due to a heterozygous new mutation in KCNA2: proposal for a new channelopathy.

Pena SD, Coimbra RL.

Clin Genet. 2015 Feb;87(2):e1-3. doi: 10.1111/cge.12542.

Spinocerebellar ataxia in the Italian Spinone dog is associated with an intronic GAA repeat expansion in ITPR1.

Forman OP, De Risio L, Matiasek K, Platt S, Mellersh C.

Mamm Genome. 2015 Feb;26(1-2):108-17. doi: 10.1007/s00335-014-9547-6.

Multi-drugs resistant acne rosacea in a child affected by Ataxia-Telangiectasia: successful treatment with Isotretinoin.

Cantarutti N, Claps A, Angelino G, Chessa L, Callea F, El Hachem M, Diociaiuti A, Finocchi A.

Ital J Pediatr. 2015 Mar 28;41:23. doi: 10.1186/s13052-015-0125-7.

Quantitative phosphoproteomics of the ataxia telangiectasia-mutated (ATM) and ataxia telangiectasia-mutated and rad3-related (ATR) dependent DNA damage response in Arabidopsis thaliana.

Roitinger E, Hofer M, Köcher T, Pichler P, Novatchkova M, Yang J, Schlögelhofer P, Mechtler K.

Mol Cell Proteomics. 2015 Mar;14(3):556-71. doi: 10.1074/mcp.M114.040352.

CAOS-Episodic Cerebellar Ataxia, Areflexia, Optic Atrophy, and Sensorineural Hearing Loss: A Third Allelic Disorder of the ATP1A3 Gene.

Heimer G, Sadaka Y, Israelian L, Feiglin A, Ruggieri A, Marshall CR, Scherer SW, Ganelin-Cohen E, Marek-Yagel D, Tzadok M, Nissenkorn A, Anikster Y, Minassian BA, Zeev BB.

J Child Neurol. 2015 Nov;30(13):1749-56. doi: 10.1177/0883073815579708.

Progressive Charolais ataxia in calves.

[No authors listed]

Vet Rec. 2015 Jan 10;176(2):42-5. doi: 10.1136/vr.g7621. No abstract available.

A Disease Mutation Causing Episodic Ataxia Type I in the S1 Links Directly to the Voltage Sensor and the Selectivity Filter in Kv Channels.

Petitjean D, Kalstrup T, Zhao J, Blunck R.

J Neurosci. 2015 Sep 2;35(35):12198-206. doi: 10.1523/JNEUROSCI.1419-15.2015.

Deep brain stimulation of the dentate nucleus improves cerebellar ataxia after cerebellar stroke.

Teixeira MJ, Cury RG, Galhardoni R, Barboza VR, Brunoni AR, Alho E, Lepski G, Ciampi de Andrade D.

Neurology. 2015 Dec 8;85(23):2075-6. doi: 10.1212/WNL.0000000000002204. No abstract available.

Spinocerebellar ataxia 7 (SCA7) in Indian population: predilection of ATXN7-CAG expansion mutation in an ethnic population.

Faruq M, Srivastava AK, Singh S, Gupta R, Dada T, Garg A, Behari M, Mukerji M.

Indian J Med Res. 2015 Feb;141(2):187-98.

Clinical and Neuropathological Features of Spastic Ataxia in a Spanish Family with Novel Compound Heterozygous Mutations in STUB1.

Bettencourt C, de Yébenes JG, López-Sendón JL, Shomroni O, Zhang X, Qian SB, Bakker IM, Heetveld S, Ros R, Quintáns B, Sobrido MJ, Bevova MR, Jain S, Bugiani M, Heutink P, Rizzu P.

Cerebellum. 2015 Jun;14(3):378-81. doi: 10.1007/s12311-014-0643-7. No abstract available.

Novel SACS mutation in autosomal recessive spastic ataxia of Charlevoix-Saguenay.

Sánchez MG, Pérez JE, Pérez MR, Redondo AG.

J Neurol Sci. 2015 Nov 15;358(1-2):475-6. doi: 10.1016/j.jns.2015.08.032. No abstract available.

Gluten Sensitivity - A Potentially Reversible Cause of Progressive Cerebellar Ataxia and Myoclonus - A Case Report.

Khwaja GA, Bohra V, Duggal A, Ghuge VV, Chaudhary N.

J Clin Diagn Res. 2015 Nov;9(11):OD07-8. doi: 10.7860/JCDR/2015/13299.6743.

High functioning male with fragile X syndrome and fragile X-associated tremor/ataxia syndrome.

Basuta K, Schneider A, Gane L, Polussa J, Woodruff B, Pretto D, Hagerman R, Tassone F.

Am J Med Genet A. 2015 Sep;167A(9):2154-61. doi: 10.1002/ajmg.a.37125.